124512[geneid] - ClinVar

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Items: 71

	Variation	Gene (Protein Change)	Type (Consequence)	Condition	Classification, Review status
Select item 58703	GRCh38/hg38 17q24.3-25.3(chr17:69209079-83086677)x3	MIR636, MIR6516 +1033 more	Copy number gain	See cases	GPathogenic
Select item 155275	GRCh38/hg38 17q24.3-25.3(chr17:69916435-83102552)x3	AANAT, AATK +1013 more	Copy number gain	See cases	GPathogenic
Select item 2281303	NM_015167.3(JMJD6):c.101G>A (p.Ser34Asn)	JMJD6, METTL23 (S34N)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 2513279	NM_015167.3(JMJD6):c.44G>C (p.Ser15Thr)	JMJD6, METTL23 (S15T)	Single nucleotide variant (missense variant +1 more)	not specified	GUncertain significance
Select item 3125511	NM_001080510.5(METTL23):c.4T>C (p.Tyr2His)	METTL23 (Y2H)	Single nucleotide variant (missense variant +2 more)	Inborn genetic diseases	GUncertain significance
Select item 520872	NM_001080510.5(METTL23):c.20C>T (p.Ala7Val)	METTL23 (A7V)	Single nucleotide variant (missense variant +2 more)	Intellectual disability, autosomal recessive 44 +2 more	GUncertain significance
Select item 2231674	NM_001080510.5(METTL23):c.85-8_85-6del	METTL23	Deletion (intron variant)	Inborn genetic diseases	GUncertain significance
Select item 1184977	NC_000017.11:g.76732979_76732983del	METTL23	Deletion	not provided	GLikely pathogenic
Select item 1324716	NM_001080510.5(METTL23):c.126del (p.Lys42fs)	METTL23 (K38fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 44	GLikely pathogenic
Select item 2442558	NM_001080510.5(METTL23):c.127T>C (p.Cys43Arg)	METTL23 (C39R +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 376858	NM_001080510.5(METTL23):c.136G>C (p.Glu46Gln)	METTL23 (E46Q +1 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1218200	NM_001080510.5(METTL23):c.139_142del (p.Val47fs)	METTL23 (V43fs +1 more)	Deletion (frameshift variant +1 more)	not provided	GUncertain significance
Select item 1071733	NM_001080510.5(METTL23):c.149_150dup (p.Asp51fs)	METTL23 (D47fs +1 more)	Duplication (frameshift variant +1 more)	not provided	GPathogenic
Select item 520871	NM_001080510.5(METTL23):c.150dup (p.Asp51fs)	METTL23 (D47fs +1 more)	Duplication (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 144023	NM_001080510.5(METTL23):c.169_172del (p.His57fs)	METTL23 (H53fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +2 more	GPathogenic/Likely pathogenic
Select item 985456	NM_001080510.5(METTL23):c.174_177del (p.Cys58fs)	METTL23 (C54fs +1 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 44 +2 more	GPathogenic/Likely pathogenic
Select item 3250621	NM_001080510.5(METTL23):c.175C>T (p.Leu59=)	METTL23	Single nucleotide variant (synonymous variant +1 more)	not provided	GLikely benign
Select item 812707	NM_001080510.5(METTL23):c.178dup (p.Glu60fs)	METTL23 (E60fs +1 more)	Duplication (frameshift variant +1 more)	Intellectual disability, autosomal recessive 44	GPathogenic
Select item 520640	NM_001080510.5(METTL23):c.178del (p.Glu60fs)	METTL23 (E56fs +1 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases	GPathogenic
Select item 2204478	NM_001080510.5(METTL23):c.188G>A (p.Arg63Gln)	METTL23 (R63Q +1 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3024257	NM_001080510.5(METTL23):c.204_207del (p.Met68fs)	METTL23 (M1fs +2 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 44	GLikely pathogenic
Select item 1299777	NM_001080510.5(METTL23):c.238del (p.Thr80fs)	METTL23 (T13fs +2 more)	Deletion (frameshift variant)	not provided	GLikely pathogenic
Select item 1031798	NM_001080510.5(METTL23):c.250A>G (p.Ile84Val)	METTL23 (I80V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 737135	NM_001080510.5(METTL23):c.255T>G (p.Ser85=)	METTL23	Single nucleotide variant (synonymous variant)	not specified +1 more	GBenign/Likely benign
Select item 1712311	NM_001080510.5(METTL23):c.266T>A (p.Leu89Gln)	METTL23 (L22Q +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 44	GUncertain significance
Select item 435859	NM_001080510.5(METTL23):c.271C>G (p.Leu91Val)	METTL23 (L91V +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases +2 more	GConflicting classifications of pathogenicity
Select item 520855	NM_001080510.5(METTL23):c.275CAC[1] (p.Pro93del)	METTL23 (P93del +2 more)	Microsatellite (inframe_deletion)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 2588791	NM_001080510.5(METTL23):c.278C>T (p.Pro93Leu)	METTL23 (P89L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 3125509	NM_001080510.5(METTL23):c.281A>T (p.Gln94Leu)	METTL23 (Q27L +2 more)	Single nucleotide variant (missense variant)	Inborn genetic diseases	GUncertain significance
Select item 144024	NM_001080510.5(METTL23):c.282_286del (p.Gln94fs)	METTL23 (Q27fs +2 more)	Deletion (frameshift variant)	Intellectual disability, autosomal recessive 44	GPathogenic
Select item 3340973	NM_001080510.5(METTL23):c.285TAT[1] (p.Ile97del)	METTL23 (I30del +2 more)	Microsatellite (inframe_deletion)	not provided	GLikely pathogenic
Select item 1675692	NM_001080510.5(METTL23):c.299C>T (p.Ser100Phe)	METTL23 (S100F +2 more)	Single nucleotide variant (missense variant)	not provided	GUncertain significance
Select item 1032598	NM_001080510.5(METTL23):c.319G>A (p.Glu107Lys)	METTL23 (E103K +2 more)	Single nucleotide variant (missense variant)	Intellectual disability, autosomal recessive 44	GUncertain significance
Select item 2582828	NM_001080510.5(METTL23):c.322+1del	METTL23	Deletion (splice donor variant)	Intellectual disability, autosomal recessive 44	GPathogenic
Select item 1805314	NM_001080510.5(METTL23):c.322+2dup	METTL23	Duplication (splice donor variant)	Intellectual disability, autosomal recessive 44	GPathogenic
Select item 754051	NM_001080510.5(METTL23):c.323-6C>T	METTL23	Single nucleotide variant (intron variant)	not provided	GLikely benign
Select item 435858	NM_001080510.5(METTL23):c.348A>G (p.Ile116Met)	METTL23 (I116M +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 2472510	NM_001080510.5(METTL23):c.360G>C (p.Met120Ile)	METTL23 (M116I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 3060532	NM_001080510.5(METTL23):c.366G>C (p.Lys122Asn)	METTL23 (K118N +2 more)	Single nucleotide variant (missense variant +1 more)	METTL23-related disorder	GLikely benign
Select item 3125510	NM_001080510.5(METTL23):c.376G>A (p.Val126Ile)	METTL23 (V59I +2 more)	Single nucleotide variant (missense variant +1 more)	Inborn genetic diseases	GUncertain significance
Select item 144025	NM_001080510.5(METTL23):c.397C>T (p.Gln133Ter)	METTL23 (Q133* +2 more)	Single nucleotide variant (nonsense +1 more)	Intellectual disability, autosomal recessive 44	GPathogenic
Select item 2498030	NM_001080510.5(METTL23):c.403A>G (p.Arg135Gly)	METTL23 (R131G +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 218546	NM_001080510.5(METTL23):c.406A>G (p.Ser136Gly)	METTL23 (S136G +2 more)	Single nucleotide variant (missense variant +1 more)	not specified +1 more	GUncertain significance
Select item 384291	NM_001080510.5(METTL23):c.407+1G>C	METTL23	Single nucleotide variant (splice donor variant)	not provided	GLikely pathogenic
Select item 1065469	NM_001080510.5(METTL23):c.407+6T>C	METTL23	Single nucleotide variant (intron variant)	Intellectual disability, autosomal recessive 44	GUncertain significance
Select item 1805419	NM_001080510.5(METTL23):c.409del (p.Ala137fs)	METTL23 (A133fs +2 more)	Deletion (frameshift variant +1 more)	Intellectual disability, autosomal recessive 44	GLikely pathogenic
Select item 1032599	NM_001080510.5(METTL23):c.417G>T (p.Trp139Cys)	METTL23 (W135C +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 44	GUncertain significance
Select item 1810219	NM_001080510.5(METTL23):c.434_438del (p.Leu145fs)	METTL23 (L141fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GPathogenic/Likely pathogenic
Select item 420567	NM_001080510.5(METTL23):c.470_471del (p.Leu157fs)	METTL23 (L90fs +2 more)	Deletion (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 435860	NM_001080510.5(METTL23):c.492_495del (p.Glu165fs)	METTL23 (E161fs +2 more)	Deletion (frameshift variant +1 more)	not specified	GUncertain significance
Select item 522026	NM_001080510.5(METTL23):c.493G>T (p.Glu165Ter)	METTL23 (E165* +2 more)	Single nucleotide variant (nonsense +1 more)	Inborn genetic diseases	GUncertain significance
Select item 1032600	NM_001080510.5(METTL23):c.496G>T (p.Asp166Tyr)	METTL23 (D166Y +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 44	GUncertain significance
Select item 252569	NM_001080510.5(METTL23):c.496G>A (p.Asp166Asn)	METTL23 (D166N +2 more)	Single nucleotide variant (missense variant +1 more)	not provided +1 more	GBenign/Likely benign
Select item 520856	NM_001080510.5(METTL23):c.504del (p.Glu169fs)	METTL23 (E102fs +2 more)	Deletion (frameshift variant +1 more)	Inborn genetic diseases +1 more	GConflicting classifications of pathogenicity
Select item 1305641	NM_001080510.5(METTL23):c.514C>T (p.Leu172Phe)	METTL23 (L105F +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance
Select item 1031045	NM_001080510.5(METTL23):c.521G>T (p.Gly174Val)	METTL23 (G107V +2 more)	Single nucleotide variant (missense variant +1 more)	Intellectual disability, autosomal recessive 44	GUncertain significance
Select item 373407	NM_001080510.5(METTL23):c.536_545dup (p.Ile183fs)	METTL23 (I179fs +2 more)	Duplication (frameshift variant +1 more)	not provided	GLikely pathogenic
Select item 425145	NM_001080510.5(METTL23):c.569T>C (p.Leu190Pro)	METTL23 (L190P +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GBenign/Likely benign
Select item 1701331	GRCh37/hg19 17q25.1-25.3(chr17:73481509-81043199)x3	EVPL, EXOC7 +146 more	Copy number gain	not provided	GPathogenic
Select item 815954	GRCh37/hg19 17q25.1-25.3(chr17:74509193-75602123)x1	ST6GALNAC1, MGAT5B +10 more	Copy number loss	not provided	GUncertain significance
Select item 815953	GRCh37/hg19 17q25.1-25.3(chr17:73261871-78608763)x3	AANAT, ACOX1 +84 more	Copy number gain	not provided	GPathogenic
Select item 689209	GRCh37/hg19 17q24.1-25.3(chr17:62778720-81041938)x3	AANAT, AATK +226 more	Copy number gain	not provided	GPathogenic
Select item 624519	GRCh37/hg19 17q24.1-25.2(chr17:64159738-74891024)x3	LLGL2, MAP2K6 +119 more	Copy number gain	not provided	GLikely pathogenic
Select item 564463	GRCh37/hg19 17q24.1-25.3(chr17:63689671-81041938)x3	AANAT, AATK +222 more	Copy number gain	not provided	GPathogenic
Select item 443488	GRCh37/hg19 17q24.2-25.3(chr17:67002415-81041938)x3	AANAT, AATK +202 more	Copy number gain	See cases	GPathogenic
Select item 443446	GRCh37/hg19 17q25.1-25.3(chr17:73951701-81041938)x3	AANAT, AATK +128 more	Copy number gain	See cases	GPathogenic
Select item 443013	GRCh37/hg19 17q25.1-25.2(chr17:73992637-75099218)x4	AANAT, CDK3 +25 more	Copy number gain	See cases	GUncertain significance
Select item 441816	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)x3	ALOX12, ALOX12B +1143 more	Copy number gain	See cases	GPathogenic
Select item 441815	GRCh37/hg19 17p13.3-q25.3(chr17:526-81041938)	SPEM2, TBCD +1143 more	Copy number gain	See cases	GPathogenic
Select item 395646	GRCh37/hg19 17q21.31-25.3(chr17:42580684-81085615)x3	AANAT, AATK +458 more	Copy number gain	See cases	GPathogenic
Select item 3360367	NM_001080510.5(METTL23):c.442T>C (p.Trp148Arg)	METTL23 (W144R +2 more)	Single nucleotide variant (missense variant +1 more)	not provided	GUncertain significance

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Items: 71